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A nonsense PAX6 mutation in a family with congenital aniridia

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we repo...

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Bibliographische Detailangaben
Veröffentlicht in:Korean J Pediatr
Hauptverfasser: Han, Kyoung Hee, Lee, Hye Jin, Ha, Il-Soo, Kang, Hee Gyung, Cheong, Hae Il
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Korean Pediatric Society 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5177687/
https://ncbi.nlm.nih.gov/pubmed/28018434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S1
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